| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5254408T>G | CA124550 | HBG2 | c.199A>C (p.Lys67Gln) c.34A>C (p.Lys12Gln) c.1745A>C (n.1745A>C) c.169A>C (p.Lys57Gln) c.*68A>C (n.*68A>C) c.156T>G (p.Leu52=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5254408T= | CA1949577445 | HBG2 | c.199A= (p.Lys67=) c.34A= (p.Lys12=) c.1745A= (n.1745A=) c.169A= (p.Lys57=) c.*68A= (n.*68A=) c.156T= (p.Leu52=) | dbSNP |